Results 221 to 230 of about 1,336,426 (267)
Advancing the Utility of Low-Vision Aids in the Rehabilitation of Vision in Unclassified Macular Dystrophy: A Report of a Rare Disease. [PDF]
CureusSeelan Samuel S +4 more
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KLINSE: a comprehensive service model for rare disease information and care management support. [PDF]
Orphanet J Rare DisJäger K +5 more
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Enhancing rare disease guideline development with real-world data: a method evaluation. [PDF]
BMC Med Res MethodolIrvine W +7 more
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Assessing rare disease understanding: a novel disease readiness level framework. [PDF]
Orphanet J Rare DisKitahara K, Kano S.
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Landscape of parental postzygotic mutations in >11,000 rare disease trios
Garcia-Salinas OI +7 more
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Rare liver diseases are not rare in China
Liver International, 2022AbstractRare diseases, also known as orphan diseases, are a group of diseases that affect a relatively small number of people. Low incidence rates, atypical symptoms, imperfect diagnosis criteria and few treatment options impose medical, psychological and financial stress on the local healthcare system.
Tingting Lv, Jidong Jia
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2010
Under the term "autoimmune diseases" are comprised a large number of disorders with variable clinical expression which have in common an autoimmune pathogenesis as defined by direct, indirect or circumstantial evidence. Autoimmune diseases may affect a single organ or may determine a multisystem involvement, and most of them cause significant and ...
Arrigo, Schieppati, Erica, Daina
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Under the term "autoimmune diseases" are comprised a large number of disorders with variable clinical expression which have in common an autoimmune pathogenesis as defined by direct, indirect or circumstantial evidence. Autoimmune diseases may affect a single organ or may determine a multisystem involvement, and most of them cause significant and ...
Arrigo, Schieppati, Erica, Daina
openaire +2 more sources
American Journal of Medical Genetics Part A, 2019
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about ...
openaire +2 more sources
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about ...
openaire +2 more sources
Journal of Paediatrics and Child Health, 1994
AbstractRare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children.
E J, Elliott, K G, Chant
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AbstractRare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children.
E J, Elliott, K G, Chant
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Journal of Child Neurology, 2012
Gaucher’s disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher’s disease has 3 types—non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III).
Bikash, Shrestha +2 more
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Gaucher’s disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher’s disease has 3 types—non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III).
Bikash, Shrestha +2 more
openaire +2 more sources